Annelies De Jaegher

Evaluation of the AmplideX® SMA Plus Kit for comprehensive SMN1/SMN2 analysis in Spinal Muscular Atrophy

Liesbeth Claeys (UGent) , Annelies De Jaegher (UGent) , Jennifer Anckaert (UGent) , Xenia Leroy (UGent) , Tjoïlina Reyniers (UGent) , Melek Yoruk (UGent) , Elfride De Baere (UGent) and Kathleen Claes (UGent)

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.316-317

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Enhancing molecular diagnosis of neurofibromatosis type 1 : cultured melanocytes unveil somatic mosaicism in patients screened negative in blood samples

Annelies De Jaegher (UGent) , Suzanne Vanhauwaert (UGent) , Nathalie Goderis (UGent) , Hélène Verhaeghe (UGent) , Aude Beyens (UGent) and Kathleen Claes (UGent)

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1381-1381

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Harnessing cDNA analysis to enhance variant classification in cancer predisposition genes

Liesbeth Claeys (UGent) , Suzanne Vanhauwaert (UGent) , Annelies De Jaegher (UGent) , Kim De Leeneer (UGent) , Bram Parton (UGent) , Ilse Coene (UGent) , Martine De Bleeckere (UGent) , Katia De Pauw (UGent) , Arne De Visscher (UGent) , Elke D'Haese (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1273-1273

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Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice

Kim De Leeneer (UGent) , Jan Hellemans (UGent) , Wouter Steyaert (UGent) , Steve Lefever (UGent) , Inge Vereecke (UGent) , Eveline Debals (UGent) , Brecht Crombez (UGent) , Machteld Baetens (UGent) , Mattias Van Heetvelde (UGent) , Frauke Coppieters (UGent) , et al.

(2015) HUMAN MUTATION. 36(3). p.379-387

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Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

Frauke Coppieters (UGent) , Kristof Van Schil (UGent) , Miriam Bauwens (UGent) , Hannah Verdin (UGent) , Annelies De Jaegher (UGent) , Delfien Syx (UGent) , Tom Sante (UGent) , Steve Lefever (UGent) , Nouha Bouayed Abdelmoula, Fanny Depasse, et al.

(2014) GENETICS IN MEDICINE. 16(9). p.671-680

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Thoracic duct ligation as treatment of chylothorax due to vena cava superior thrombosis

Stephanie Van Biervliet (UGent) , Kathleen De Waele (UGent) , Saskia Vande Velde (UGent) , Katrien Van Renterghem (UGent) , Catherine François, Ann Verrijckt (UGent) , Annelies De Jaegher (UGent) and Myriam Van Winckel (UGent)

(2011) ACTA CLINICA BELGICA. 66(3). p.221-222

Academic Bibliography

Annelies De Jaegher

Evaluation of the AmplideX® SMA Plus Kit for comprehensive SMN1/SMN2 analysis in Spinal Muscular Atrophy

Enhancing molecular diagnosis of neurofibromatosis type 1 : cultured melanocytes unveil somatic mosaicism in patients screened negative in blood samples

Harnessing cDNA analysis to enhance variant classification in cancer predisposition genes

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

Thoracic duct ligation as treatment of chylothorax due to vena cava superior thrombosis

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